FXYD4

FXYD domain containing ion transport regulator 4 P59646 FXYD4_HUMAN
Protein Coding Chr 10 10q11.21 Swiss-Prot reviewed Entrez 53828
Mutations
83
CL 13 · Tissue 70
Samples
42
CL 8 · Tissue 34
Peptides
30
unique mutant peptides
Transcripts
2
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations831370
Samples42834
Peptides30527

Function

FXYD4 · FXYD domain containing ion transport regulator 4

This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010].

Isoforms & Proteins

2 transcripts · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000476166 P59646 43 30
ENST00000616495 P59646 40 30

Gene Properties

Type
Protein Coding
Chromosome
10
Cytoband
10q11.21
Entrez ID
Aliases
CHIF

Recurrent Mutations

All 30 amino-acid changes on canonical ENST00000476166 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in FXYD4 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FXYD4 – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
Rhabdomyosarcoma
2/33 6%
0/171 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Plasma Cell Myeloma
2/44 5%
0/305 0%
Endometrial Carcinoma
1/42 2%
2/612 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Melanoma
0/210 0%
5/1899 0%
Glioma
0/52 0%
4/2127 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Colorectal Carcinoma
2/143 1%
1/3239 0%
Non-Small Cell Lung Carcinoma
1/304 0%
0/1390 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%
Other Blood Cancers
0/61 0%
1/2725 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

Where FXYD4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FXYD4 were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 28 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 83 mutations in FXYD4

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide